Autosomal dominant congenital stationary night blindness and normal fundus with an electronegative electroretinogram.
We studied three members of three successive generations of a family with autosomal dominant congenital stationary night blindness and normal fundi. Psychophysical studies on two members showed normal final cone thresholds and mildly increased rod thresholds. Full-field electroretinograms on all three members showed normal photopic b-wave amplitudes and implicit times. Under scotopic conditions, the rod response was absent, and with a bright flash stimulus, there was a normal a-wave with no b-wave. This electronegative dark-adapted electroretinogram resembled the Schubert-Bornschein type seen in congenital stationary blindness, which has been seen only in autosomal and X-linked recessive pedigrees.
Noble
K G
KG
Department of Ophthalmology, New York University Medical Center, NY 10016.
Carr
R E
RE
Siegel
I M
IM
D000328:Adult; D002675:Child, Preschool; D003623:Dark Adaptation; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D014792:Visual Acuity